SRPK3

SRSF protein kinase 3
OMIM: 301002, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SRPK3 in Mendeliome Version 1.2374	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Intellectual developmental disorder, X-linked, 114, MIM#301134 Tags digenic
Green SRPK3 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Tags digenic
Green SRPK3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked, 114, MIM#301134
Green SRPK3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked, 114, MIM#301134
Amber SRPK3 in Fetal anomalies Version 1.314	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked, 114, MIM#301134